DisGeNET - a database of gene-disease associations

List of shared variants

Neoplasm Metastasis, C0027627

Disease: Tumor Progression

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1057519710	KIT	0.695	0.280	4	54733166	missense variant	G/C;T	snv			22
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs11549467	HIF1A ; HIF1A-AS3	0.653	0.400	14	61740857	missense variant	G/A	snv	8.9E-03	7.0E-03	30
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs121917887	NME1-NME2 ; NME1	0.790	0.120	17	51161744	missense variant	A/G	snv	6.0E-05	7.0E-05	10
rs1284806277	MOK	0.827	0.200	14	102251978	missense variant	A/G	snv		1.4E-05	13
rs1285136498	NR3C1	0.807	0.080	5	143400101	missense variant	G/A	snv			13
rs137852578	AR	0.827	0.080	X	67723710	missense variant	A/G	snv			10
rs1418810723	FN1	0.851	0.080	2	215409981	missense variant	A/T	snv	8.0E-06		9
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins		8.8E-02	31
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs200863613	CDKN2A	0.925	0.080	9	21971061	missense variant	C/A;T	snv	8.5E-05	3.7E-04	6
rs2227983	EGFR	0.658	0.520	7	55161562	missense variant	G/A;C;T	snv	0.29		31
rs351855	FGFR4	0.597	0.560	5	177093242	missense variant	G/A	snv	0.33	0.26	58
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29